Practical Recommendations For Diagnosis And Management Of Respiratory Muscle Weakness In Late-onset Pompe Disease

Practical Recommendations For Diagnosis And Management Of Respiratory Muscle Weakness In Late-onset Pompe Disease

Boentert M; Prigent H; Várdi K; Jones HN; Mellies U; Simonds AK; Wenninger S; Barrot Cortés E; Confalonieri M

DOI: 10.3390/ijms17101735

International Journal Of Molecular Sciences

2016

Adult; Glycogen Storage Disease Type Ii/diagnosis; Glycogen Storage Disease Type Ii/pathology; Glycogen Storage Disease Type Ii/therapy; Humans; Infant; Muscle Weakness/pathology; Muscle Weakness/therapy; Respiratory Function Tests; Respiratory Insufficiency/therapy; Respiratory Muscles/pathology; Surveys And Questionnaires

Pompe Disease; Cough Assistance; Mechanical Ventilation; Neuromuscular Disorders; Respiratory Muscle Weakness

Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy (in infants only). In patients with juvenile or adult disease onset, respiratory muscle weakness may decline more rapidly than overall neurological disability. Sleep-disordered breathing, daytime hypercapnia, and the need for nocturnal ventilation eventually evolve in most patients. Additionally, respiratory muscle weakness leads to decreased cough and impaired airway clearance, increasing the risk of acute respiratory illness. Progressive respiratory muscle weakness is a major cause of morbidity and mortality in late-onset Pompe disease even if enzyme replacement therapy has been established. Practical knowledge of how to detect, monitor and manage respiratory muscle involvement is crucial for optimal patient care. A multidisciplinary approach combining the expertise of neurologists, pulmonologists, and intensive care specialists is needed. Based on the authors' own experience in over 200 patients, this article conveys expert recommendations for the diagnosis and management of respiratory muscle weakness and its sequelae in late-onset Pompe disease.

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October 2016 List